About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pacsin1tm1.1Bqu
targeted mutation 1.1, Britta Qualmann
MGI:5660311
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pacsin1tm1.1Bqu/Pacsin1tm1.1Bqu Not Specified MGI:5691569


Genotype
MGI:5691569
hm1
Allelic
Composition
Pacsin1tm1.1Bqu/Pacsin1tm1.1Bqu
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pacsin1tm1.1Bqu mutation (0 available); any Pacsin1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• homozygotes are born at normal Mendelian frequencies and survive for at least >1 year

growth/size/body
• at 3-8 weeks of age, both female and male mice show a significant (~10%) reduction in body weight relative to wild-type controls

behavior/neurological
• homozygotes develop generalized seizures with tonic-clonic convulsions without loss of consciousness in novelty situations
• a typical sequence consists of three phases: partial seizures, tonic-clonic convulsions and very quite pausing
• seizure probabilities rise to 50% and 80% at 18 and 23 weeks of age, respectively

nervous system
• homozygotes develop generalized seizures with tonic-clonic convulsions without loss of consciousness in novelty situations
• a typical sequence consists of three phases: partial seizures, tonic-clonic convulsions and very quite pausing
• seizure probabilities rise to 50% and 80% at 18 and 23 weeks of age, respectively
• although gross hippocampal architecture is normal, hippocampal volume is increased by 7%
• however, no differences in brain weight, brain volume, brain histology or cortical thickness and layering are observed
• F-/G-actin ratios in the hippocampus and in resting synaptosomes remain normal
• after prolonged light exposure, retinal rod ribbon synapses exhibit an increased frequency of clathrin labelling at the plasma membrane
• homozygotes show significantly increased SV diameters in hippocampal synapses and SV surfaces are less curved than wild-type; however, no differences in hippocampal synapse density, active zone length, SV density or number of docked SVs are observed
• after prolonged light exposure, retinal rod ribbon synapses exhibit significantly larger SV diameters
• after prolonged light exposure, retinal rod ribbon synapses exhibit a 58% reduction in SV density
• homozygotes display altered hippocampal network activity upon stimulation
• after induction with kainic acid, the power of gamma frequency oscillations is increased by >230% in hippocampal slices relative to wild-type slices
• upon application of bicuculline (a GABAA receptor antagonist), the frequency of epileptiform discharges is increased by >3-fold relative to wild-type controls while the amplitudes of discharges rise by >90%
• FM1-43 dye recycling analysis in nerve terminals of cultured hippocampal neurons after moderate (300 APs at 10 Hz) and strong (800 APs at 80 Hz) stimulation revealed a trend towards reduced dye uptake after 300 stimuli (deltaF1) and significantly decreased dye uptake after 800 stimuli (deltaF2), suggesting defective activity-dependent SV endocytosis
• averaged deltaF2/deltaF1 ratio of individual nerve terminals is significantly reduced relative to wild-type neurons, suggesting impaired high-capacity retrieval of SVs
• significant reduction in evoked EPSC (eEPSC) amplitudes upon an increasing strength of stimulation in CA1 pyramidal neurons
• significant reduction in eIPSC amplitudes upon an increasing strength of stimulation in CA1 pyramidal neurons
• reduction is apparently larger for the inhibitory (eIPSCs) than for the excitatory system (eEPSCs)
• whole-cell recordings from CA1 pyramidal neurons revealed significantly reduced frequencies of mEPSCs
• however, the peak amplitudes of mEPSCs are similar to those in wild-type neurons
• whole-cell recordings from CA1 pyramidal neurons revealed significantly reduced frequencies of mIPSCs
• however, the peak amplitudes of mIPSCs are similar to those in wild-type neurons
• short-term depression evoked by strong stimulations is significantly less pronounced in mutant hippocampal slices than in wild-type slices

cellular
• homozygotes show defects in presynaptic membrane trafficking processes, especially under high-capacity retrieval conditions, accumulation of endocytic intermediates, impaired activity-dependent SV retrieval, and defective synaptic activity
• recruitment of dynamins I, II and III to the curved membranes of liposomes is impaired; recruitment defects can be completely rescued by addition of recombinant syndapin I to mutant brain cytosol

vision/eye
• homozygotes show severe alterations in rod photoreceptor ribbon synapses after light exposure
• after acute light exposure, rod ribbon synapses display a 110% increase in endosome-like structures as well as accumulations of branched tubular structures
• after prolonged light exposure, rod ribbon synapses show massive membrane trafficking defects with numerous coated omega-shaped profiles at the presynaptic plasma membrane, in addition to branched tubular structures and a 170% increase in endosome-like structures
• after prolonged light exposure, SV sizes are shifted to larger SV diameters, and SV density is reduced by 58%

reproductive system
• fertility is reduced by ~30%





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory